Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546022 | SCV000630377 | uncertain significance | Welander distal myopathy | 2016-09-04 | criteria provided, single submitter | clinical testing | The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TIA1 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TIA1-related disease. This sequence change deletes 1 nucleotides from exon 13 of the TIA1 mRNA (c.1156delC), causing a frameshift at codon 386. This creates a translational stop signal in the 3' UTR of the TIA1 mRNA (p.Gln386Serfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to result in deletion of the last amino acid and replacing it with 2 incorrect amino acids and disrupted protein product. |